Incidental Mutation 'R9058:Dnah7c'
ID 688786
Institutional Source Beutler Lab
Gene Symbol Dnah7c
Ensembl Gene ENSMUSG00000101337
Gene Name dynein, axonemal, heavy chain 7C
Synonyms Dnahc7c
MMRRC Submission 068884-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.340) question?
Stock # R9058 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 46464752-46846636 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 46805816 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Tryptophan at position 3422 (G3422W)
Ref Sequence ENSEMBL: ENSMUSP00000140430 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000189749]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000189749
AA Change: G3422W

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000140430
Gene: ENSMUSG00000101337
AA Change: G3422W

DomainStartEndE-ValueType
low complexity region 2 15 N/A INTRINSIC
low complexity region 37 48 N/A INTRINSIC
coiled coil region 714 746 N/A INTRINSIC
Pfam:DHC_N2 754 1167 2.2e-138 PFAM
AAA 1320 1459 4e-3 SMART
Blast:AAA 1601 1829 4e-87 BLAST
AAA 1968 2116 8.7e-4 SMART
Pfam:AAA_8 2303 2574 6.2e-73 PFAM
Pfam:MT 2586 2935 5.4e-52 PFAM
Pfam:AAA_9 2953 3183 7.4e-63 PFAM
Pfam:Dynein_heavy 3312 4021 1.3e-250 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acox1 T C 11: 116,080,268 (GRCm39) T135A possibly damaging Het
Adrm1b A T 3: 92,335,559 (GRCm39) M283K probably benign Het
Aldh8a1 T C 10: 21,258,344 (GRCm39) I147T possibly damaging Het
Alkbh5 T C 11: 60,444,548 (GRCm39) L288S probably benign Het
Bpifb5 A G 2: 154,080,817 (GRCm39) D478G possibly damaging Het
Cacna1s A T 1: 135,998,436 (GRCm39) K155* probably null Het
Ccser1 T C 6: 61,350,976 (GRCm39) L511P probably damaging Het
Cebpz A T 17: 79,243,227 (GRCm39) N142K probably benign Het
Cfap299 A T 5: 98,932,400 (GRCm39) D200V probably damaging Het
Clip1 G T 5: 123,752,645 (GRCm39) R379S Het
Cpne8 T A 15: 90,381,276 (GRCm39) I513F probably damaging Het
Ctnnb1 T A 9: 120,780,476 (GRCm39) C213* probably null Het
Dnah7b A G 1: 46,282,575 (GRCm39) K2903E probably damaging Het
Dnhd1 T A 7: 105,333,270 (GRCm39) H247Q probably benign Het
Efna2 A G 10: 80,022,720 (GRCm39) Y88C probably damaging Het
Eppk1 C T 15: 75,992,265 (GRCm39) G1539R probably benign Het
Exoc3l2 A T 7: 19,203,821 (GRCm39) K138* probably null Het
Fam47e A G 5: 92,719,367 (GRCm39) probably benign Het
Frmpd1 T A 4: 45,283,948 (GRCm39) M923K probably damaging Het
Gbe1 A G 16: 70,324,059 (GRCm39) E558G possibly damaging Het
Gm5431 T C 11: 48,786,049 (GRCm39) T109A probably benign Het
Gm9508 G A 10: 77,532,620 (GRCm39) P150S unknown Het
Grep1 T C 17: 23,935,016 (GRCm39) N63S probably benign Het
Hps4 G A 5: 112,525,905 (GRCm39) S642N possibly damaging Het
Hrob T C 11: 102,146,386 (GRCm39) S221P probably benign Het
Hsfy2 A T 1: 56,676,504 (GRCm39) V11D probably benign Het
Kif13a T C 13: 46,944,941 (GRCm39) N887D probably damaging Het
Kirrel1 A G 3: 86,992,442 (GRCm39) V541A probably benign Het
Klk15 C T 7: 43,587,790 (GRCm39) H73Y possibly damaging Het
Lamc3 G A 2: 31,798,653 (GRCm39) R453H probably benign Het
Mideas A G 12: 84,220,642 (GRCm39) M104T probably damaging Het
Muc6 G C 7: 141,218,154 (GRCm39) T2173S possibly damaging Het
Neb T C 2: 52,075,341 (GRCm39) N208S probably benign Het
Nlrc5 A T 8: 95,238,938 (GRCm39) T1459S possibly damaging Het
Npy1r T C 8: 67,156,600 (GRCm39) S7P probably benign Het
Nr4a2 T C 2: 57,002,255 (GRCm39) N66S probably benign Het
Nr5a1 T C 2: 38,584,034 (GRCm39) T462A probably damaging Het
Ntng2 A G 2: 29,094,202 (GRCm39) C390R probably benign Het
Or4p23 A C 2: 88,577,030 (GRCm39) D67E Het
Or5b119 G A 19: 13,456,956 (GRCm39) T202I possibly damaging Het
Or7g12 T A 9: 18,900,222 (GRCm39) *313R probably null Het
Pecam1 G T 11: 106,590,675 (GRCm39) P33Q probably damaging Het
Phc2 T A 4: 128,616,769 (GRCm39) F347L probably benign Het
Phldb2 T A 16: 45,592,604 (GRCm39) H938L possibly damaging Het
Pkd1l3 GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA 8: 110,350,827 (GRCm39) probably benign Het
Prkch G T 12: 73,822,308 (GRCm39) probably null Het
Prr5 A G 15: 84,641,241 (GRCm39) N169S probably benign Het
Puf60 C T 15: 75,942,425 (GRCm39) D483N probably benign Het
Puf60 C T 15: 75,944,382 (GRCm39) M133I probably benign Het
Rmnd1 T C 10: 4,363,398 (GRCm39) H284R probably benign Het
Scaper T C 9: 55,722,762 (GRCm39) E682G probably damaging Het
Sds A G 5: 120,618,779 (GRCm39) E111G possibly damaging Het
Sec23b T A 2: 144,424,010 (GRCm39) I553N probably damaging Het
Serpina1a A T 12: 103,820,001 (GRCm39) I415K possibly damaging Het
Slc14a1 T A 18: 78,145,785 (GRCm39) probably null Het
Socs1 G A 16: 10,602,692 (GRCm39) P15L probably benign Het
Sv2b A T 7: 74,789,822 (GRCm39) probably null Het
Sync T C 4: 129,187,217 (GRCm39) I83T probably damaging Het
Syt16 T A 12: 74,282,019 (GRCm39) L381Q probably damaging Het
Tbx20 T C 9: 24,681,019 (GRCm39) R158G probably damaging Het
Tmco1 C T 1: 167,136,132 (GRCm39) probably benign Het
Tmem19 C A 10: 115,198,031 (GRCm39) probably benign Het
Trpa1 A C 1: 14,959,618 (GRCm39) N689K probably damaging Het
Ube3b C A 5: 114,553,300 (GRCm39) H891N probably benign Het
Vmn2r19 T A 6: 123,313,021 (GRCm39) M697K possibly damaging Het
Zfp142 A T 1: 74,608,955 (GRCm39) C1613* probably null Het
Zfp7 T A 15: 76,764,981 (GRCm39) M1K probably null Het
Zfp936 A T 7: 42,839,196 (GRCm39) Q221L probably benign Het
Other mutations in Dnah7c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00559:Dnah7c APN 1 46,846,449 (GRCm39) missense possibly damaging 0.72
IGL02958:Dnah7c APN 1 46,696,271 (GRCm39) missense probably damaging 1.00
IGL03035:Dnah7c APN 1 46,563,277 (GRCm39) missense probably benign 0.37
IGL03161:Dnah7c APN 1 46,506,456 (GRCm39) missense probably benign 0.20
IGL03178:Dnah7c APN 1 46,506,525 (GRCm39) missense probably benign
IGL03052:Dnah7c UTSW 1 46,671,309 (GRCm39) missense probably damaging 1.00
R0751:Dnah7c UTSW 1 46,505,065 (GRCm39) missense probably benign
R1029:Dnah7c UTSW 1 46,651,881 (GRCm39) missense probably damaging 1.00
R3104:Dnah7c UTSW 1 46,837,439 (GRCm39) missense probably damaging 0.97
R3977:Dnah7c UTSW 1 46,668,071 (GRCm39) missense possibly damaging 0.75
R4003:Dnah7c UTSW 1 46,720,977 (GRCm39) missense probably damaging 1.00
R4133:Dnah7c UTSW 1 46,705,150 (GRCm39) missense probably benign 0.01
R4303:Dnah7c UTSW 1 46,787,738 (GRCm39) missense probably damaging 1.00
R4329:Dnah7c UTSW 1 46,688,441 (GRCm39) missense probably benign 0.33
R4434:Dnah7c UTSW 1 46,705,442 (GRCm39) missense probably damaging 1.00
R4457:Dnah7c UTSW 1 46,779,781 (GRCm39) missense probably damaging 1.00
R4470:Dnah7c UTSW 1 46,787,795 (GRCm39) missense possibly damaging 0.56
R4507:Dnah7c UTSW 1 46,805,771 (GRCm39) missense probably damaging 1.00
R4527:Dnah7c UTSW 1 46,572,091 (GRCm39) missense probably benign 0.34
R4571:Dnah7c UTSW 1 46,572,376 (GRCm39) missense probably damaging 0.99
R4589:Dnah7c UTSW 1 46,553,743 (GRCm39) nonsense probably null
R4731:Dnah7c UTSW 1 46,809,333 (GRCm39) missense probably damaging 1.00
R4732:Dnah7c UTSW 1 46,809,333 (GRCm39) missense probably damaging 1.00
R4733:Dnah7c UTSW 1 46,809,333 (GRCm39) missense probably damaging 1.00
R4747:Dnah7c UTSW 1 46,572,328 (GRCm39) missense probably damaging 1.00
R4845:Dnah7c UTSW 1 46,832,692 (GRCm39) missense probably damaging 1.00
R4873:Dnah7c UTSW 1 46,728,085 (GRCm39) missense probably benign
R4875:Dnah7c UTSW 1 46,728,085 (GRCm39) missense probably benign
R4916:Dnah7c UTSW 1 46,634,168 (GRCm39) missense probably damaging 1.00
R5241:Dnah7c UTSW 1 46,569,660 (GRCm39) missense probably benign
R5279:Dnah7c UTSW 1 46,558,429 (GRCm39) missense probably benign 0.14
R5327:Dnah7c UTSW 1 46,704,728 (GRCm39) missense probably benign 0.05
R5546:Dnah7c UTSW 1 46,705,477 (GRCm39) missense probably damaging 1.00
R5605:Dnah7c UTSW 1 46,837,395 (GRCm39) missense possibly damaging 0.84
R5637:Dnah7c UTSW 1 46,799,521 (GRCm39) splice site probably null
R5639:Dnah7c UTSW 1 46,778,828 (GRCm39) missense probably benign
R5663:Dnah7c UTSW 1 46,574,308 (GRCm39) missense probably damaging 1.00
R5718:Dnah7c UTSW 1 46,787,826 (GRCm39) missense possibly damaging 0.47
R5759:Dnah7c UTSW 1 46,654,527 (GRCm39) missense probably damaging 1.00
R5771:Dnah7c UTSW 1 46,678,825 (GRCm39) missense probably benign 0.00
R5784:Dnah7c UTSW 1 46,563,228 (GRCm39) missense possibly damaging 0.80
R5800:Dnah7c UTSW 1 46,686,175 (GRCm39) missense probably benign 0.01
R5933:Dnah7c UTSW 1 46,558,375 (GRCm39) missense probably damaging 1.00
R5948:Dnah7c UTSW 1 46,711,657 (GRCm39) missense probably benign 0.21
R6034:Dnah7c UTSW 1 46,496,418 (GRCm39) missense probably benign 0.00
R6034:Dnah7c UTSW 1 46,496,418 (GRCm39) missense probably benign 0.00
R6487:Dnah7c UTSW 1 46,808,284 (GRCm39) missense probably damaging 1.00
R6536:Dnah7c UTSW 1 46,697,450 (GRCm39) missense probably benign 0.00
R6614:Dnah7c UTSW 1 46,688,511 (GRCm39) missense probably benign
R6614:Dnah7c UTSW 1 46,688,500 (GRCm39) missense probably benign
R6615:Dnah7c UTSW 1 46,688,511 (GRCm39) missense probably benign
R6615:Dnah7c UTSW 1 46,554,599 (GRCm39) missense probably benign 0.01
R6615:Dnah7c UTSW 1 46,688,500 (GRCm39) missense probably benign
R6649:Dnah7c UTSW 1 46,688,511 (GRCm39) missense probably benign
R6649:Dnah7c UTSW 1 46,688,500 (GRCm39) missense probably benign
R6650:Dnah7c UTSW 1 46,688,511 (GRCm39) missense probably benign
R6650:Dnah7c UTSW 1 46,688,500 (GRCm39) missense probably benign
R6651:Dnah7c UTSW 1 46,688,511 (GRCm39) missense probably benign
R6651:Dnah7c UTSW 1 46,688,500 (GRCm39) missense probably benign
R6653:Dnah7c UTSW 1 46,688,511 (GRCm39) missense probably benign
R6653:Dnah7c UTSW 1 46,688,500 (GRCm39) missense probably benign
R6714:Dnah7c UTSW 1 46,779,966 (GRCm39) missense probably damaging 0.99
R6729:Dnah7c UTSW 1 46,711,681 (GRCm39) missense possibly damaging 0.46
R6760:Dnah7c UTSW 1 46,688,500 (GRCm39) missense probably benign
R6760:Dnah7c UTSW 1 46,688,511 (GRCm39) missense probably benign
R6763:Dnah7c UTSW 1 46,668,050 (GRCm39) missense possibly damaging 0.60
R6866:Dnah7c UTSW 1 46,696,403 (GRCm39) missense probably damaging 1.00
R6880:Dnah7c UTSW 1 46,566,831 (GRCm39) missense probably damaging 0.97
R6988:Dnah7c UTSW 1 46,705,373 (GRCm39) missense possibly damaging 0.68
R6995:Dnah7c UTSW 1 46,494,973 (GRCm39) missense probably benign 0.07
R7007:Dnah7c UTSW 1 46,571,910 (GRCm39) missense probably benign 0.04
R7086:Dnah7c UTSW 1 46,789,285 (GRCm39) missense probably benign 0.00
R7128:Dnah7c UTSW 1 46,566,645 (GRCm39) missense probably benign
R7131:Dnah7c UTSW 1 46,720,932 (GRCm39) missense probably benign 0.00
R7135:Dnah7c UTSW 1 46,572,368 (GRCm39) missense probably damaging 1.00
R7171:Dnah7c UTSW 1 46,719,898 (GRCm39) missense probably damaging 0.99
R7176:Dnah7c UTSW 1 46,469,969 (GRCm39) missense probably benign 0.00
R7221:Dnah7c UTSW 1 46,494,937 (GRCm39) missense possibly damaging 0.87
R7310:Dnah7c UTSW 1 46,636,127 (GRCm39) missense possibly damaging 0.94
R7319:Dnah7c UTSW 1 46,823,608 (GRCm39) missense possibly damaging 0.95
R7319:Dnah7c UTSW 1 46,819,935 (GRCm39) missense probably benign 0.31
R7404:Dnah7c UTSW 1 46,705,223 (GRCm39) missense possibly damaging 0.52
R7452:Dnah7c UTSW 1 46,686,196 (GRCm39) missense possibly damaging 0.91
R7515:Dnah7c UTSW 1 46,496,450 (GRCm39) missense probably benign
R7534:Dnah7c UTSW 1 46,809,227 (GRCm39) missense probably damaging 0.98
R7542:Dnah7c UTSW 1 46,823,658 (GRCm39) missense probably benign 0.00
R7605:Dnah7c UTSW 1 46,671,470 (GRCm39) missense probably damaging 1.00
R7643:Dnah7c UTSW 1 46,641,973 (GRCm39) missense probably benign
R7770:Dnah7c UTSW 1 46,665,460 (GRCm39) splice site probably null
R7884:Dnah7c UTSW 1 46,830,929 (GRCm39) missense probably benign 0.23
R7899:Dnah7c UTSW 1 46,553,861 (GRCm39) missense probably benign 0.00
R8025:Dnah7c UTSW 1 46,496,456 (GRCm39) missense probably benign 0.01
R8057:Dnah7c UTSW 1 46,728,112 (GRCm39) missense possibly damaging 0.52
R8191:Dnah7c UTSW 1 46,646,618 (GRCm39) missense possibly damaging 0.56
R8255:Dnah7c UTSW 1 46,698,589 (GRCm39) missense probably damaging 1.00
R8428:Dnah7c UTSW 1 46,711,536 (GRCm39) missense probably damaging 1.00
R8441:Dnah7c UTSW 1 46,572,398 (GRCm39) missense probably damaging 1.00
R8485:Dnah7c UTSW 1 46,719,952 (GRCm39) missense probably benign 0.05
R8559:Dnah7c UTSW 1 46,764,299 (GRCm39) missense probably damaging 1.00
R8752:Dnah7c UTSW 1 46,711,701 (GRCm39) missense probably benign 0.00
R8869:Dnah7c UTSW 1 46,671,504 (GRCm39) missense probably damaging 0.97
R9121:Dnah7c UTSW 1 46,816,896 (GRCm39) missense probably benign 0.00
R9121:Dnah7c UTSW 1 46,704,650 (GRCm39) missense probably damaging 0.97
R9246:Dnah7c UTSW 1 46,571,934 (GRCm39) missense possibly damaging 0.51
R9319:Dnah7c UTSW 1 46,521,168 (GRCm39) missense possibly damaging 0.94
R9388:Dnah7c UTSW 1 46,779,886 (GRCm39) missense probably damaging 1.00
Z1176:Dnah7c UTSW 1 46,654,441 (GRCm39) missense probably damaging 1.00
Z1176:Dnah7c UTSW 1 46,506,462 (GRCm39) missense probably benign 0.00
Z1176:Dnah7c UTSW 1 46,799,476 (GRCm39) missense possibly damaging 0.95
Z1176:Dnah7c UTSW 1 46,686,152 (GRCm39) critical splice acceptor site probably null
Z1176:Dnah7c UTSW 1 46,678,825 (GRCm39) missense probably benign
Z1177:Dnah7c UTSW 1 46,693,263 (GRCm39) missense possibly damaging 0.93
Predicted Primers PCR Primer
(F):5'- ATACAGGGGAGTCCAGTTCAC -3'
(R):5'- TCCTGTGGCTGAGTGACAAG -3'

Sequencing Primer
(F):5'- TGGATATGCTAGCACACTCACTG -3'
(R):5'- GTGACAAGGTTTAGTTTTCTCTCATC -3'
Posted On 2021-11-19